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A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information

BACKGROUND: Human mitochondrial DNA has an important role in the cellular energy production through oxidative phosphorylation. Therefore, this process may be the cause and have an effect on mitochondrial DNA mutability, functional alteration, and disease onset related to a wide range of different cl...

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Detalles Bibliográficos
Autores principales: Vitale, Ornella, Preste, Roberto, Palmisano, Donato, Attimonelli, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005629/
https://www.ncbi.nlm.nih.gov/pubmed/31821723
http://dx.doi.org/10.1002/mgg3.1085